A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. [electronic resource]
Producer: 19751021Description: 632-6 p. digitalISSN:- 0028-4793
- Amniotic Fluid -- cytology
- Cells, Cultured
- Cerebrosides -- metabolism
- Choline -- analogs & derivatives
- Clinical Enzyme Tests -- methods
- Fibroblasts -- enzymology
- Glucosylceramidase -- analysis
- Heterozygote
- Homozygote
- Humans
- Hydrogen-Ion Concentration
- Hydrolysis
- Leukocytes -- enzymology
- Liver -- enzymology
- Niemann-Pick Diseases -- diagnosis
- Nitrophenols
- Phosphoric Diester Hydrolases -- analysis
- Phosphorylcholine -- analogs & derivatives
- Proteins
- Skin -- cytology
- Sphingomyelin Phosphodiesterase -- analysis
- Sphingomyelins -- metabolism
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Publication Type: Journal Article
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